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Mascelli S, Severino M, Raso A, et al. Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord. Mol Cytogenet. 2014;7:31doi: 10.1186/1755-8166-7-31.
Mascelli, S., Severino, M., Raso, A., Nozza, P., Tassano, E., Morana, G., De Marco, P., Merello, E., Milanaccio, C., Pavanello, M., Rossi, A., Cama, A., Garrè, M. L., & Capra, V. (2014). Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord. Molecular cytogenetics, 731. https://doi.org/10.1186/1755-8166-7-31
Mascelli, Samantha, et al. "Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord." Molecular cytogenetics vol. 7 (2014): 31. doi: https://doi.org/10.1186/1755-8166-7-31
Mascelli S, Severino M, Raso A, Nozza P, Tassano E, Morana G, De Marco P, Merello E, Milanaccio C, Pavanello M, Rossi A, Cama A, Garrè ML, Capra V. Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord. Mol Cytogenet. 2014 May 15;7:31. doi: 10.1186/1755-8166-7-31. eCollection 2014. PMID: 24860619; PMCID: PMC4032172.
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Mol Cytogenet. 2014 May 15;7:31. doi: 10.1186/1755-8166-7-31. eCollection 2014.

Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord.

Molecular cytogenetics

Samantha Mascelli, Mariasavina Severino, Alessandro Raso, Paolo Nozza, Elisa Tassano, Giovanni Morana, Patrizia De Marco, Elisa Merello, Claudia Milanaccio, Marco Pavanello, Andrea Rossi, Armando Cama, Maria Luisa Garrè, Valeria Capra

Affiliations

  1. Istituto Giannina Gaslini, via G. Gaslini 5, 16147 Genoa, Italy.

PMID: 24860619 PMCID: PMC4032172 DOI: 10.1186/1755-8166-7-31

Abstract

We report on a 9-years-old patient with mild intellectual disability, facial dimorphisms, bilateral semicircular canal dysplasia, periventricular nodular heterotopias, bilateral hippocampal malrotation and abnormal cerebellar foliation, who developed mild motor impairment and gait disorder due to a pilocytic astrocytoma of the spinal cord. Array-CGH analysis revealed two paternal inherited chromosomal events: a 484.3 Kb duplication on chromosome 15q26.3 and a 247 Kb deletion on 22q11.23. Further, a second de novo 1.5 Mb deletion on 22q11.21 occurred. Chromosome 22 at q11.2 and chromosome 15 at q24q26 are considered unstable regions subjected to copy number variations, i.e. structural alterations of genome, mediated by low copy repeat sequences or segmental duplications. The link between some structural CNVs, which compromise fundamental processes controlling DNA stability, and genomic disorders suggest a plausible scenario for cancer predisposition. Evaluation of the genes at the breakpoints cannot account simultaneously for the phenotype and tumour development in this patient. The two paternal inherited CNVs arguably are not pathogenic and do not contribute to the clinical manifestations. Similarly, although the de novo large deletion at 22q11.21 overlaps with the Di George (DGS) critical region and results in haploinsufficiency of genes compromising critical processes for DNA stability, this case lacks several hallmarks of DGS.

Keywords: 15q duplication; 22q11.2 deletion; Pilocytic astrocytoma; Semicircular canal dysplasia; Spinal cord

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